D43N (p.Asp43Asn) variant of APOL1 (Apolipoprotein L1)
D43N (p.Asp43Asn) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs187922489
- gnomAD 22-36254953-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- MetaLR 0.01
- MetaSVM -0.93
- CADD 5.21
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available